ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580420073
Gene: ELP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2272259
ClinVar RCV Id:
RCV004125976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060561.3:p.Val362Ala
CA4694327
NM_018091.6:c.1085T>C